Linked Data
ClinVar Variation Id:
912321
ClinVar RCV Id:
RCV001165474
dbSNP Id:
rs200678652
ExAC:
9:136509419 A / T
gnomAD v2:
9-136509419-A-T
gnomAD v3:
9-133644297-A-T
gnomAD v4:
9-133644297-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644297A>T , CM000671.2:g.133644297A>T | GRCh38 |
| NC_000009.11:g.136509419A>T , CM000671.1:g.136509419A>T | GRCh37 |
| NC_000009.10:g.135499240A>T | NCBI36 |
| NG_008645.1:g.12935A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1001A>T MANE Select | ENSP00000376776.2:p.Tyr334Phe | |
| ENST00000393056.6:c.1001A>T | ENSP00000376776.2:p.Tyr334Phe | |
| NM_000787.3:c.1001A>T | NP_000778.3:p.Tyr334Phe | |
| NM_000787.4:c.1001A>T MANE Select | NP_000778.3:p.Tyr334Phe |